A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

American Journal of Medical Genetics, Part A

Volumn 170, Issue 9, 2016, Pages 2436-2439

  Moosa, Shahida ^a   Fano, Virginia ^b   Obregon, Maria Gabriela ^b   Altmüller, Janine ^c,d   Thiele, Holger ^d   Nürnberg, Peter ^c,d   Nishimura, Gen ^e   Wollnik, Bernd ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan   (Argentina)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM; GLYCOSAMINOGLYCAN; OLIGOSACCHARIDE; PARATHYROID HORMONE; TRANSFERRIN; MAGMAS PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ARTHRODESIS; AUDITORY SYSTEM EXAMINATION; BONE DYSPLASIA; CASE REPORT; CESAREAN SECTION; CHILD; CONDUCTION DEAFNESS; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; ELECTROPHORESIS; FOLLOW UP; GENE; GENE MUTATION; GESTATIONAL AGE; HOMOZYGOTE; HUMAN; KARYOTYPE; LETTER; LIMB MALFORMATION; MACROCEPHALY; MOLECULAR DIAGNOSIS; MOTOR NERVE CONDUCTION; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OTITIS MEDIA; PAM16 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCANTY HAIR; SENSORY NERVE CONDUCTION; SHORT STATURE; SPEECH DELAY; SPONDYLOMETAPHYSEAL DYSPLASIA TYPE MEGARBANE DAGHER MELKI TYPE; SURVIVAL; THORAX MALFORMATION; URINE LEVEL; DIAGNOSTIC IMAGING; FOUNDER EFFECT; GENETICS; GROWTH DISORDER; HERNIA; INFANT; JOINT INSTABILITY; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PSYCHOMOTOR DISORDER; SURVIVAL ANALYSIS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FOUNDER EFFECT; GROWTH DISORDERS; HERNIA; HOMOZYGOTE; HUMANS; INFANT; JOINT INSTABILITY; MALE; MITOCHONDRIAL PROTEINS; MUTATION; PHENOTYPE; PSYCHOMOTOR DISORDERS; SURVIVAL ANALYSIS;

EID: 84977585597     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37823     Document Type: Letter

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